Linked Data
ClinVar Variation Id:
2090317
ClinVar RCV Id:
RCV003005823
dbSNP Id:
rs533819369
ExAC:
12:125435034 T / C
gnomAD v2:
12-125435034-T-C
gnomAD v3:
12-124950488-T-C
gnomAD v4:
12-124950488-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.124950488T>C , CM000674.2:g.124950488T>C | GRCh38 |
| NC_000012.11:g.125435034T>C , CM000674.1:g.125435034T>C | GRCh37 |
| NC_000012.10:g.124000987T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308736.7:c.3046A>G MANE Select | ENSP00000311135.2:p.Lys1016Glu | |
| ENST00000544745.2:c.2517A>G | ||
| ENST00000308736.6:c.3046A>G | ENSP00000311135.2:p.Lys1016Glu | |
| ENST00000539298.1:n.3146A>G | ||
| ENST00000542400.5:n.1660A>G | ||
| ENST00000544745.1:c.2407A>G | ENSP00000439009.1:p.Lys803Glu | |
| NM_032656.3:c.3046A>G | NP_116045.2:p.Lys1016Glu | |
| XM_005253590.2:c.3046A>G | XP_005253647.1:p.Lys1016Glu | |
| XM_011538597.1:c.*53A>G | XP_011536899.1:n.*53A>G | |
| XM_005253590.3:c.3046A>G | XP_005253647.1:p.Lys1016Glu | |
| XR_001748819.1:n.3186A>G | ||
| XR_001748820.1:n.3139A>G | ||
| NM_032656.4:c.3046A>G MANE Select | NP_116045.2:p.Lys1016Glu |